Long-term effects of neonatal hypoglycemia on brain growth and psychomotor development in small-for-gestational-age preterm infants.

OBJECTIVE: To investigate the effects of neonatal hypoglycemia on physical growth and neurocognitive function.Study design: A systematic detection of hypoglycemia (<2.6 mmol/L or 47 mg/dL) was carried out in 85 small-for-gestational-age preterm neonates. Prospective serial evaluations of physical growth and psychomotor development were performed. Retrospectively, infants were grouped according to their glycemic status. RESULTS: The incidence of hypoglycemia was 72.9%. Infants with repeated episodes of hypoglycemia had significantly reduced head circumferences and lower scores in specific psychometric tests at 3.5 years of age. Hypoglycemia also caused reduced head circumferences at 18 months and lower psychometric scores at 5 years of age. Infants with moderate recurrent hypoglycemia had lower scores at 3.5 and 5 years of age compared with the group of infants who had 1 single severe hypoglycemic episode. CONCLUSION: Recurrent episodes of hypoglycemia were strongly correlated with persistent neurodevelopmental and physical growth deficits until 5 years of age. Recurrent hypoglycemia also was a more predictable factor for long-term effects than the severity of a single hypoglycemic episode. Therefore repetitive blood glucose monitoring and rapid treatment even for mild hypoglycemia are recommended for small-for-gestational-age infants in the neonatal period.

Psychomotor Development of 18-Months Children With Orofacial Clefts

Objective - To describe the global and language development of children with cleft palate or cleft lip and palate at the age of 18 months, and to evaluate whether the type of cleft has an impact on psychomotor development. Study Design - Prospective cohort study. Settings - Tertiary care hospital Patients - All children born between December 2002 and November 2009 with an orofacial cleft, operated and seen at the developmental unit (UD) of the same hospital at the age of 18 months. Outcome Measures - Developmental quotients of the Griffiths Mental Development Scale and the French Communicative Development Inventory (IFDC) were used to assess the overall and language development of the children. Statistics- The population characteristics were described with means for continuous variables, and frequencies for binary or categorical variables. Chi-squared and regression analysis were used to analyse the results. Results - 69 children with clefts were examined at the age of 18 months with the IFDC and the Griffith test. The results showed that there was no significant difference in the test results of language development and global psychomotor development between the children with different types of clefts, and all were within the normal range. Conclusion - Psychomotor development is not affected by orofacial clefts, and there is no difference between children with cleft palate or cleft lip and palate.

Long-term follow-up in patients with Lennox-Gastaut syndrome. Epileptological aspects, psychomotor development and social adaptation

In 1989/90 a follow-up was made possible on 72 of 78 patients who have been treated for the supposed or confirmed diagnosis of a Lennox-Gastaut-Syndrome at the university children hospital of Berne between 1964 and 1978. Nine patients were excluded of this study because the diagnosis was proved wrong retrospectively, leaving 63 cases. Of these, eleven patients (17.5%) have died. The remaining 52 (82.5%) were evaluated regarding their epilepsy, psychomotor development and social adaptation. The follow-up was good for 14.3%, intermediate for 23.8% and poor for 44.4%. Bad prognostic factors were found to be: first manifestation of epilepsy during the first year of life, occurrence of infantile spasms or hypsarrhythmia in the EEG and pathological neurological signs at the beginning of the disease. In the course of illness a change of seizure phenomenology was observed. The infantile spasms were seen only during the first three years of epilepsy. After the second year of disease psychomotor seizures became more and more frequent. Atypical absences, already seen at the beginning, were the most frequent form of seizure from the third year of epilepsy until the end of our observations. During the course of disease the frequency of generalized tonic and tonic-clonic seizures decreased little.

Effect of iodine prophylaxis during pregnancy on neurocognitive development of children during the first two years of life.

CONTEXT The association between thyroid function during pregnancy and the later mental and psychomotor development of the child is supported by numerous experimental, clinical, and epidemiological studies. OBJECTIVE The aim of the study was to evaluate the psychological development of infants aged 3 to 18 months whose mothers had received 300 microg of potassium iodide during the first trimester of their pregnancy and compare with infants whose mothers had received no iodine supplements. DESIGN AND STUDY SUBJECTS: The study included 133 women who had received 300 microg of potassium iodine and 61 women who had received no iodine supplements. MAIN OUTCOME MEASURES The neuropsychological status of the children was evaluated with the Bayley Scales of Infant Development, and measurements were made of TSH, free T(3), free T(4), and urinary iodine. RESULTS Those children whose mothers had received an iodine supplement of 300 microg had a more favorable psychometric assessment than those of the other group of mothers. They had higher scores on the Psychomotor Development Index (P = 0.02) and the Behavior Rating Scale. CONCLUSIONS Dietary iodine supplements not only have no harmful effect on the neurodevelopment of the children, they may even be beneficial. Given the possible presence of confounding variables not controlled for in this study, these findings should be considered as preliminary.

Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features

A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.

Currículo e atendimento educacional especializado na educação infantil : possibilidades e desafios à inclusão escolar

Esta pesquisa teve como objetivo geral compreender a proposta/ prática curricular do Atendimento Educacional Especializado (AEE) na Sala de Recursos Multifuncionais (SRM) enquanto função complementar na educação da criança pequena com deficiência e Transtornos Globais do Desenvolvimento (TGD). Partimos das constatações de que, nas duas últimas décadas, documentos oficiais, assim como pesquisas na área, apontam a necessidade de um trabalho pedagógico inclusivo, que atenda às demandas e características dos diferentes sujeitos matriculados. Questionamos se a proposta e prática curricular complementar do AEE, por meio da SRM, têm contribuído para a inclusão da criança pequena, público alvo da educação especial, nas práticas pedagógicas da sala de aula comum? Teoricamente buscamos as contribuições da Abordagem Histórico-Cultural para compreender o desenvolvimento e aprendizagem da criança com deficiência, assim como procuramos a interlocução com os teóricos do currículo, entre os quais Sacristán. Como metodologia, utilizamos a pesquisa-ação colaborativo-crítico. O lócus da pesquisa foi um Centro de Educação Infantil, situado em Vitória/ES, com uma sala de recurso multifuncional, modelo proposto pelo Ministério da Educação (MEC). Os sujeitos participantes foram crianças de 3 a 7 anos matriculadas no Centro Municipal de Educação Infantil (CMEI) e encaminhadas para o AEE, na SRM (seis crianças surdas, sete crianças com manifestações de TGD e uma criança com Síndrome de Down); dois professores de educação especial da SRM (uma professora da área da área de Deficiência Intelectual (DI), uma professora bilíngue e um instrutor surdo); professores regentes do turno da manhã CMEI e dois pedagogos. Como perspectiva teórico-metodológica, optamos pela rede significações (Rossetti-Ferreira, 2004) que tem seus pressupostos fundamentados na teoria histórico-cultural, que compreende os processos de desenvolvimento humano como atos de significação constituídos por múltiplas interações estabelecidas social e culturalmente pelos sujeitos durante toda a vida. A organização e análise dos dados ocorreram por meio dos movimentos, cenários e atores; as práticas curriculares inclusivas na/da escola: a SRM e a sala de aula comum em seus encontros e desencontros; a preocupação com o desenvolvimento psicomotor da criança; o brincar versus a aquisição da leitura e escrita; o diálogo entre o currículo da SRM e a sala de aula comum e os encontros colaborativos com os professores de educação especial, com as pedagogas e com as professoras regentes do CMEI. Algumas considerações importantes se destacam, entre as quais: a falta de formação e desconhecimento por parte dos professores de educação especial sobre a proposta curricular da educação infantil e práticas pedagógicas descontextualizadas e fragmentadas desenvolvidas na SRM, que dificultam a ação complementar ao trabalho da classe comum. Para as professoras das salas de atividades o AEE é viável na escola de educação infantil, mas não somente na SRM, concordam que deve haver o atendimento educacional especializado no turno em que a criança esteja matriculada; que ele pode ajudar na inclusão da criança público alvo da educação especial, por meio de práticas sociais e culturais lúdicas, linguísticas e intelectuais. Concluímos que as professoras desejam um AEE dinâmico, interlocutor, que se movimente na escola como um todo.

Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes

Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and Methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.

Profile of pregnant women and children treated at a reference center for congenital toxoplasmosis in the northern state of Minas Gerais, Brazil

INTRODUCTION: To describe the clinical and epidemiological profile of pregnant women and children treated at a reference outpatient clinic for congenital toxoplasmosis. METHODS: Pregnant women potentially exposed to Toxoplasma gondii were observed. Diagnoses were made using serologic tests compatible with acute toxoplasmosis. Children presenting with: Toxoplasma-specific antibodies (IgM or IgA or ascending IgG titers higher than maternal titers in the first 3 months of life) coupled with toxoplasmosis symptoms; intracranial calcifications (by transfontanelar ultrasound or cephalic segment tomography); or retinochoroiditis (by fundoscopy examination) in the first 8 months of life were also included in the study. RESULTS: Fifty-eight mother-child pairs were observed (mean age of the mothers was 22.1 years). Most patients lived in urban areas (86.2%) and had attended less than 8 years of school (51.7%). Diagnosis was made after birth in 19 (32.8%) children. Thirty-four (58.6%) women received some type of treatment during pregnancy. Most (72.4%) of the children did not present with clinical alterations at birth. The main findings were ophthalmological: 20 (34.5%) children with retinochoroiditis, 17 (29.3%) with strabismus, and 7 (12.1%) with nystagmus. Of the children with retinochoroiditis, 9 presented with subnormal vision. Ten (32.3%) out of 31 children presented with intracranial calcifications by cephalic segment congenital toxoplasmosis, and 9 (42.9%) children presented with delayed psychomotor development. CONCLUSIONS: Our results highlight a critical situation. Protocols for follow-up of pregnant women and their children must be created to improve medical care and minimize sequelae.

Pregnancy after cardiac transplantation. Report of one case and review

A 14-year-old female patient became pregnant 6 years after heart transplantation. The pregnancy evolved uneventfully, and the newborn infant was healthy. Five months after delivery, the mother was in good condition with preserved ventricular function, and the baby had normal neuro-psychomotor development. Even though the case reported here was a success, pregnancy following cardiac transplantation is considered a high-risk condition and remains contraindicated.

A relação entre família e escola e a perspectiva de minimização das dificuldades comportamentais e cognitivas apresentadas por adolescentes com Síndrome do Alcoolismo Fetal (SAF): estudos de casos na cidade de Manaus

Dissertação de mestrado em Educação Especial (área de especialização em Dificuldades de Aprendizagem Específicas)

Psicomotricidade e intervenção precoce no Centro de Desenvolvimento da Criança Torrado da Silva do Hospital Garcia da Orta

Nota: Os anexos referidos no índice do trabalho não foram fornecidos.

BORN AT 27 WEEKS OF GESTATION WITH CLASSICAL PKU: CHALLENGES OF DIETETIC MANAGEMENT IN A VERY PRETERM INFANT

Only few cases of classical phenylketonuria (PKU) in premature infants have been reported. Treatment of these patients is challenging due to the lack of a phenylalanine-free amino acid solution for parenteral infusion. The boy was born at 27 weeks of gestation with a weight of 1000 g (P10). He received parenteral nutrition with a protein intake of 3 g/kg/day. On day 7 he was diagnosed with classical PKU (genotype IVS10-11G>A/IVS12+ 1G>A) due to highly elevated phenylalanine (Phe) level in newborn screening (2800 micromol/L). His maximum plasma Phe level reached 3696 micromol/L. Phe intake was stopped for 4 days. During this time the boy received intravenous glucose and lipids as well as little amounts of Phe-free formula by a nasogastric tube. Due to a deficit of essential amino acids and insufficient growth, a parenteral nutrition rich in branched-chain amino-acids and relatively poor in Phe was added, in order to promote protein synthesis without overloading in Phe. Under this regimen, Phe plasma levels normalized on day 19 when intake of natural protein was started. The boy has now a corrected age of 2 years. He shows normal growth parameters and psychomotor development. Despite a long period of highly elevated Phe levels in the postnatal period our patient shows good psychomotor development. The management of premature infants with PKU depends on the child's tolerance to enteral nutrition. It demands an intensive follow-up by an experienced team and dedicated dietician. Appropriate Phe-free parenteral nutrition would be necessary especially in case of gastro-intestinal complications of prematurity.

Prospective evaluation of three point of care devices for glycemia measurement in a neonatal intensive care unit.

Hypoglycemia, if recurrent, may have severe consequences on cognitive and psychomotor development of neonates. Therefore, screening for hypoglycemia is a daily routine in every facility taking care of newborn infants. Point-of-care-testing (POCT) devices are interesting for neonatal use, as their handling is easy, measurements can be performed at bedside, demanded blood volume is small and results are readily available. However, such whole blood measurements are challenged by a wide variation of hematocrit in neonates and a spectrum of normal glucose concentration at the lower end of the test range. We conducted a prospective trial to check precision and accuracy of the best suitable POCT device for neonatal use from three leading companies in Europe. Of the three devices tested (Precision Xceed, Abbott; Elite XL, Bayer; Aviva Nano, Roche), Aviva Nano exhibited the best precision. None completely fulfilled the ISO-accuracy-criteria 15197: 2003 or 2011. Aviva Nano fulfilled these criteria in 92% of cases while the others were <87%. Precision Xceed reached the 95% limit of the 2003 ISO-criteria for values ≤4.2 mmol/L, but not for the higher range (71%). Although validated for adults, new POCT devices need to be specifically evaluated on newborn infants before adopting their routine use in neonatology.

Impact of vaccines given during pregnancy on the offspring of women consulting a travel clinic: a longitudinal study

BACKGROUND: Little is known on the impact of travel vaccinations during pregnancy on child outcomes, in particular on the long-term psychomotor development. The objectives of the study were (1) to estimate the rate of premature births, congenital abnormalities, and mental and physical development problems of children born from mothers who had been vaccinated during pregnancy and (2) to compare these rates with those of children whose mothers had not been vaccinated during pregnancy. METHODS: Longitudinal study including (1) retrospectively pregnant women having attended our travel clinic before (vaccinated) and (2) prospectively mothers attending our clinic (nonvaccinated). We performed phone interviews with mothers vaccinated during pregnancy, up to 10 years before, and face-to-face interviews with nonvaccinated age-matched mothers, ie, women attending the travel clinic who had one child of about the same age as the one of the case to compare child development between both groups. RESULTS: Fifty-three women vaccinated during pregnancy were interviewed as well as 53 nonvaccinated ones. Twenty-eight (53%) women received their vaccination during the first trimester. The most frequent vaccine administered was hepatitis A (55% of the cases), followed by di-Te (34%), IM poliomyelitis (23%), yellow fever (12%), A-C meningitis (8%), IM typhoid (4%), and oral poliomyelitis (4%). Children were followed for a range of 1 to 10 years. Rates of premature births were 5.7% in both groups; congenital abnormalities were 1.9% in the vaccinated cohort versus 5.7% in the nonvaccinated one; children took their first steps at a median age of 12 months in both cohorts; among schoolchildren, 5% of the vaccinated cohort versus 7.7% of the nonvaccinated attended a lower level or a specialized school. CONCLUSION: In this small sample size, there was no indication that usual travel vaccinations, including the yellow fever one, had deleterious effect on child outcome and development